Results 81 to 90 of about 485 (123)

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca²⁺ accumulation in spinobulbar muscular atrophy skeletal muscle. [PDF]

Nat Commun, 2023
Marchioretti C, Zanetti G, Pirazzini M, Gherardi G, Nogara L, Andreotti R, Martini P, Marcucci L, Canato M, Nath SR, Zuccaro E, Chivet M, Mammucari C, Pacifici M, Raffaello A, Rizzuto R, Mattarei A, Desbats MA, Salviati L, Megighian A, Sorarù G, Pegoraro E, Belluzzi E, Pozzuoli A, Biz C, Ruggieri P, Romualdi C, Lieberman AP, Babu GJ, Sandri M, Blaauw B, Basso M, Pennuto M.   +32 more
europepmc   +1 more source

Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset. [PDF]

Neurology
Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, Fortuna A, Alqahtani A, Kokkinis A, Dahlqvist J, Fenu S, Cavalca E, Bertini A, Mariotti C, Grunseich C, Kawase T, Kishimoto Y, Yamada S, Katsuno M, Fratta P, Fratta P, Conte A, Sabatelli M, Soraru G, Vissing J, Kang M, Park JS, Pareyson D, Viglietta V.   +28 more
europepmc   +1 more source

Interplay between microtubule interactome, myonuclei mechanotransduction, and positioning in myopathies. [PDF]

Nucleus
Castellano L, Caillol D, Streichenberger N, Gache V.   +3 more
europepmc   +1 more source

Doença de Kennedy: Relato de dois casos [PDF]

Amato AA, Barkhaus PE, Ertekin C, F. Marcos Cunha, Fischbeck KH, Harding A E, Igarashi S, Kaneko K, Kennedy WR, La Spada AR, Leila Elizabeth Ferraz, Lineu Cesar Werneck, M. Seefeld, Paulson GW, Rosana Herminia Scola   +14 more
core   +1 more source

Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment. [PDF]

Curr Opin Neurol, 2020
Grunseich C, Fischbeck KH.
europepmc   +1 more source

Genetic risk factors in Amyotrophic Lateral Sclerosis [PDF]

, 1999
Al-Chalabi, Ammar
core  

Central neurodegeneration in Kennedy's disease accompanies peripheral motor dysfunction. [PDF]

Sci Rep
Tu S, Li T, Carroll AS, Mahoney CJ, Huynh W, Park SB, Henderson R, Vucic S, Kiernan MC, Lin CS.   +9 more
europepmc   +1 more source

The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations. [PDF]

Orphanet J Rare Dis, 2020
Pradat PF, Bernard E, Corcia P, Couratier P, Jublanc C, Querin G, Morélot Panzini C, Salachas F, Vial C, Wahbi K, Bede P, Desnuelle C, French Kennedy’s Disease Writing Group.   +12 more
europepmc   +1 more source

Transcutaneous electrical nerve stimulation as an adjuvant treatment for thoracolumbar acute hyperesthesia in chondrodystrophic dogs: a prospective blinded controlled clinical study. [PDF]

Front Pain Res (Lausanne)
Gouveia D, Cardoso A, Carvalho C, Moisés M, Coelho A, Balça MM, Alvites R, Maurício AC, Ferreira A, Martins Â.   +9 more
europepmc   +1 more source

A phenotypically robust model of spinal and bulbar muscular atrophy in Drosophila. [PDF]

J Neurosci Res
Richardson K, Sengupta M, Sujkowski A, Libohova K, Harris AC, Wessells R, Merry DE, Todi SV.   +7 more
europepmc   +1 more source